.. _ARAP1: ARAP1 ^^^^^ .. contents:: :local: General Information ******************* :Full gene name: ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 :Entrez Gene ID: 116985 :Location: 11q13.4 :Synonyms: CENTD2 :Type: protein-coding User SNPs ********* SNPs given by the user that are near or inside this gene: +-----------+---------------+-----------+ | SNP | Distance (bp) | Direction | +===========+===============+===========+ | rs1552224 | 0 | within | +-----------+---------------+-----------+ .. _ARAP1 Gene summary: NCBI Summary ************ The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] .. _OMIM ID 606646 : http://omim.org/entry/606646 .. _ARAP1 OMIM Text: OMIM **** :OMIM ID: `OMIM ID 606646 `_ .. _ARAP1 Phenotype: NCBI Phenotypes *************** * Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. * Twelve type 2 \ ``diabetes``\ susceptibility loci identified through large-scale association analysis. * NHGRI GWA Catalog * Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 \ ``diabetes``\ . .. _ARAP1 GO Term: Gene Ontology ************* * Rho GTPase activator activity * regulation of cellular component movement * Golgi apparatus * Golgi cisterna membrane * cytosol * protein binding * regulation of cell shape * actin filament reorganization involved in cell cycle * negative regulation of stress fiber assembly * zinc ion binding * ARF GTPase activator activity * phosphatidylinositol-3,4,5-trisphosphate binding * positive regulation of Cdc42 GTPase activity * regulation of ARF GTPase activity * small GTPase mediated signal transduction * positive regulation of filopodium assembly * regulation of small GTPase mediated signal transduction * plasma membrane .. _ARAP1 Pathway: KEGG Pathways ************* * `Endocytosis `_ .. _ARAP1 GeneRIF: GeneRIFs ******** * Affinity Capture-MS [`PMID 21890473`_] * Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) [`PMID 20889853`_] * ARAP1 acts primarily on Arf6 in vivo. [`PMID 18003747`_] * ARAP1 controls the late steps of the endocytic trafficking of the EGF-R [`PMID 18764928`_] * ARAP1 knockdown significantly compromises the localization of death receptor 4 at the cell surface of several tumor cell lines and slows down their TRAIL-induced death. [`PMID 18165900`_] * PTK6 enhances EGFR signaling by inhibition of EGFR down-regulation through phosphorylation of ARAP1 in breast cancer cells. [`PMID 20554524`_] * Two-hybrid [`PMID 21900206`_] * ARAP1 associated with CIN85 affects epidermal growth factor receptor endocytic trafficking [`PMID 21275903`_] * Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid [`PMID 21275903`_] * Two-hybrid [`PMID 21275903`_] * Two-hybrid [`PMID 21275903`_] * Two-hybrid [`PMID 21275903`_] * Two-hybrid [`PMID 21275903`_] * Two-hybrid [`PMID 21275903`_] * Two-hybrid [`PMID 21275903`_] * ARAP1 regulates the endocytic traffic of EGFR and, consequently, the rate of EGFR signal attenuation [`PMID 18939958`_] * Arap1 is highly expressed in the renal vasculature, and its expression is suppressed by angiotensin II. [`PMID 22357923`_] * Of the lead variants from 12 novel type 2 \ ``diabetes``\ associated loci, CENTD2 significantly associated with increased plasma \ ``glucose``\ values and decreased \ ``glucose``\ -stimulated \ ``insulin``\ release. [`PMID 21267535`_] * Affinity Capture-MS [`PMID 20360068`_] * Two-hybrid [`PMID 16169070`_] * Two-hybrid [`PMID 16169070`_] * Two-hybrid [`PMID 16169070`_] * Two-hybrid [`PMID 16169070`_] * Data suggest that ARAP1 is recruited to membranes independently of PtdIns(3,4,5)P(3), the subsequent production of which triggers enzymatic activity. [`PMID 19666464`_] * NS5A interacts with CENT-delta-2. [`PMID 15607035`_] .. _PMID 21890473: http://www.ncbi.nlm.nih.gov/pubmed/21890473 .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 18003747: http://www.ncbi.nlm.nih.gov/pubmed/18003747 .. _PMID 18764928: http://www.ncbi.nlm.nih.gov/pubmed/18764928 .. _PMID 18165900: http://www.ncbi.nlm.nih.gov/pubmed/18165900 .. _PMID 20554524: http://www.ncbi.nlm.nih.gov/pubmed/20554524 .. _PMID 21900206: http://www.ncbi.nlm.nih.gov/pubmed/21900206 .. _PMID 21275903: http://www.ncbi.nlm.nih.gov/pubmed/21275903 .. _PMID 18939958: http://www.ncbi.nlm.nih.gov/pubmed/18939958 .. _PMID 22357923: http://www.ncbi.nlm.nih.gov/pubmed/22357923 .. _PMID 21267535: http://www.ncbi.nlm.nih.gov/pubmed/21267535 .. _PMID 20360068: http://www.ncbi.nlm.nih.gov/pubmed/20360068 .. _PMID 16169070: http://www.ncbi.nlm.nih.gov/pubmed/16169070 .. _PMID 19666464: http://www.ncbi.nlm.nih.gov/pubmed/19666464 .. _PMID 15607035: http://www.ncbi.nlm.nih.gov/pubmed/15607035 .. _ARAP1 Pubmed: PubMed Articles *************** *Recent articles:* * Doblinger E et al. "Angiotensin AT1 receptor-associated protein Arap1 in the kidney vasculature is suppressed by angiotensin II." Am J Physiol Renal Physiol. 2012 May;302(10):F1313-24. `PMID 22357923`_ * Okada Y et al. "Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population." Nat Genet. 2012 Mar 25;44(5):511-6. `PMID 22446963`_ * Wagner SA et al. "A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles." Mol Cell Proteomics. 2011 Oct;10(10):M111.013284. `PMID 21890473`_ * Strawbridge RJ et al. "Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes." Diabetes. 2011 Oct;60(10):2624-34. `PMID 21873549`_ * Vinayagam A et al. "A directed protein interaction network for investigating intracellular signal transduction." Sci Signal. 2011 Sep 6;4(189):rs8. `PMID 21900206`_ * Nielsen T et al. "Type 2 diabetes risk allele near CENTD2 is associated with decreased glucose-stimulated insulin release." Diabetologia. 2011 May;54(5):1052-6. `PMID 21267535`_ * Yoon HY et al. "ARAP1 association with CIN85 affects epidermal growth factor receptor endocytic trafficking." Biol Cell. 2011 Apr;103(4):171-84. `PMID 21275903`_ * Danielsen JM et al. "Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level." Mol Cell Proteomics. 2011 Mar;10(3):M110.003590. `PMID 21139048`_ * de Miguel-Yanes JM et al. "Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms." Diabetes Care. 2011 Jan;34(1):121-5. `PMID 20889853`_ * Voight BF et al. "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis." Nat Genet. 2010 Jul;42(7):579-89. `PMID 20581827`_ .. _PMID 21890473: http://www.ncbi.nlm.nih.gov/pubmed/21890473 .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 20581827: http://www.ncbi.nlm.nih.gov/pubmed/20581827 .. _PMID 21873549: http://www.ncbi.nlm.nih.gov/pubmed/21873549 .. _PMID 21900206: http://www.ncbi.nlm.nih.gov/pubmed/21900206 .. _PMID 21275903: http://www.ncbi.nlm.nih.gov/pubmed/21275903 .. _PMID 21139048: http://www.ncbi.nlm.nih.gov/pubmed/21139048 .. _PMID 22357923: http://www.ncbi.nlm.nih.gov/pubmed/22357923 .. _PMID 21267535: http://www.ncbi.nlm.nih.gov/pubmed/21267535 .. _PMID 22446963: http://www.ncbi.nlm.nih.gov/pubmed/22446963 *Top Pubmed articles linked to gene ARAP1 matching any search term:* * Johansson S et al. "Exome sequencing and genetic testing for MODY." PLoS One. 2012;7(5):e38050. `PMID 22662265`_ * Bao XY et al. "Replication study of novel risk variants in six genes with type 2 diabetes and related quantitative traits in the Han Chinese lean individuals." Mol Biol Rep. 2012 Mar;39(3):2447-54. `PMID 21643948`_ * Strawbridge RJ et al. "Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes." Diabetes. 2011 Oct;60(10):2624-34. `PMID 21873549`_ * Nielsen T et al. "Type 2 diabetes risk allele near CENTD2 is associated with decreased glucose-stimulated insulin release." Diabetologia. 2011 May;54(5):1052-6. `PMID 21267535`_ * de Miguel-Yanes JM et al. "Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms." Diabetes Care. 2011 Jan;34(1):121-5. `PMID 20889853`_ * Voight BF et al. "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis." Nat Genet. 2010 Jul;42(7):579-89. `PMID 20581827`_ .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 21267535: http://www.ncbi.nlm.nih.gov/pubmed/21267535 .. _PMID 20581827: http://www.ncbi.nlm.nih.gov/pubmed/20581827 .. _PMID 21873549: http://www.ncbi.nlm.nih.gov/pubmed/21873549 .. _PMID 21643948: http://www.ncbi.nlm.nih.gov/pubmed/21643948 .. _PMID 22662265: http://www.ncbi.nlm.nih.gov/pubmed/22662265